A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238421



Internal ID22374148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:87727772..87739739hg38UCSC Ensembl
Outerchr16:87761378..87773345hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg381144
hg191144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260351, nssv14260354, nssv14260352, nssv14260349, nssv14260353, nssv14260841, nssv14260350, nssv14260840, nssv14260348
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKLHDC4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238421
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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